المؤلفون: Feichtinger, R.G., Oláhová, M., Kishita, Y., Garone, C., Kremer, L.S., Yagi, M., Uchiumi, T., Jourdain, A.A., Thompson, K., D'Souza, A.R., Kopajtich, R., Alston, C.L., Koch, J., Sperl, W., Mastantuono, E., Strom, T.M., Wortmann, S.B., Meitinger, T., Pierre, G., Chinnery, P.F., Chrzanowska-Lightowlers, Z.M., Lightowlers, R.N., DiMauro, S., Calvo, S.E., Mootha, V.K., Moggio, M., Sciacco, M., Comi, G.P., Ronchi, D., Murayama, K., Ohtake, A., Rebelo-Guiomar, P., Kohda, M., Kang, D., Mayr, J.A., Taylor, R.W., Okazaki, Y., Minczuk, M., Prokisch, H.

المصدر: American journal of human genetics, vol. 101, no. 4, pp. 525-538

مصطلحات موضوعية: Adult, Age of Onset, Aged, Alleles, Amino Acid Sequence, Animals, Cardiomyopathies/complications, Cardiomyopathies/genetics, Cardiomyopathies/pathology, Carrier Proteins/chemistry, Carrier Proteins/genetics, Carrier Proteins/metabolism, Cells, Cultured, Child, Preschool, Cohort Studies, DNA, Mitochondrial, Electron Transport/physiology, Embryo, Mammalian/metabolism, Mammalian/pathology, Female, Fibroblasts/metabolism, Fibroblasts/pathology, Humans, Infant, Newborn, Male

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28942965; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C1BEEDEE0B331; https://serval.unil.ch/notice/serval:BIB_C1BEEDEE0B33Test; https://europepmc.org/articles/PMC5630164Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_C1BEEDEE0B33.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C1BEEDEE0B331Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.08.015Test
https://serval.unil.ch/notice/serval:BIB_C1BEEDEE0B33Test
https://europepmc.org/articles/PMC5630164Test
https://serval.unil.ch/resource/serval:BIB_C1BEEDEE0B33.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C1BEEDEE0B331Test

المؤلفون: Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M.R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R.J., Smeitink, J., Strom, T.M., Meitinger, T., Sperl, W., Prokisch, H.

المصدر: American Journal of Human Genetics, vol. 90, no. 2, pp. 314-320

مصطلحات موضوعية: Adult, Alleles, Cardiomyopathies/enzymology, Cardiomyopathies/genetics, Cataract/enzymology, Cataract/genetics, Child, Codon, Nonsense, Exome, Female, Heterozygote, Humans, Infant, Newborn, Male, Mitochondria/enzymology, Mitochondria/genetics, Mitochondrial ADP, ATP Translocases/genetics, Mitochondrial Proteins/deficiency, Mitochondrial Proteins/genetics, Muscles/metabolism, Phenotype, Phospholipids/metabolism, Phosphotransferases (Alcohol Group Acceptor)/deficiency, Phosphotransferases (Alcohol Group Acceptor)/genetics, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test